Skip to content
Log in
Sponsored AI AM CLAUDE, A Beginner's Guide: Learn the basics of working with AI AI AM CLAUDE, A Beginner's Guide: Learn the basics of working with AI

Author

J. Mortreux

h-index 5 View on Semantic Scholar

We have 2 of 20 papers

We haven’t gathered this author’s papers yet. Follow them and we’ll fetch their work.

Not the right person? Other researchers publish under this name.

Open access Sep 2026

Expanding clinical and variant spectrum of CBX1 -related syndrome: Report of three novel cases

In vitro cellular assays revealed that CBX1 p.(Cys60Gly) variant showed an intermediate cellular phenotype between the wild type and the CBX1 p.(Leu40Pro) and p.(Cys60Arg) variants, suggesting a possible genotype-phenotype correlation.

Graciela Carrillo, Shuhei Fujino, Harrison Higgs et al. · 0 citations
Review Open access Aug 2026

Genetics in Heterotaxy: A Case Series and Literature Review on DNAH9 , PKD1L1 , MMP21 , and GDF1

This work collected cases of HTX investigated by trio-based whole-exome (WES) and whole-genome sequencing (WGS) and performed detailed clinical and molecular characterization in seven children and fetuses from France and Vietnam and revealed significant phenotypic heterogeneity while highlighting strong genotype-phenot...

Thi Bich Tuyen Ho, Alicia Coudert, Thi Thuy Hang Do et al. · 0 citations

We use cookies to run the site and, with your consent, for analytics and to show ads. See our Cookie Policy.